List of variants reported as likely pathogenic for disorder of glycogen metabolism by Genomics England Pilot Project, Genomics England

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_005609.4(PYGM):c.110A>G (p.His37Arg)	rs1170598133
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)	rs2122349615
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)	rs2122268166

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